| 基因名 | 突变 |
|---|---|
| ACY1(NM_000666,aminoacylase 1,408aa) | g.3:52020623A>G,c.529A>G,p.I177V |
| ACY1(NM_000666,aminoacylase 1,408aa) | g.3:52019951C>A,c.348C>A,p.C116X |
| ACY1(NM_000666,aminoacylase 1,408aa) | g.3:52018138C>G,c.58C>G,p.L20V |
| ACVRL1(NM_000020,activin A receptor type II-like 1,503aa) | g.12:52314610C>T,c.1445C>T,p.A482V |
| ACVRL1(NM_000020,activin A receptor type II-like 1,503aa) | g.12:52314571G>A,c.1406G>A,p.R469Q |
| ACVRL1(NM_000020,activin A receptor type II-like 1,503aa) | g.12:52312882C>T,c.1360C>T,p.R454W |
| ACVRL1(NM_000020,activin A receptor type II-like 1,503aa) | g.12:52308249C>T,c.652C>T,p.R218W |
| ACVRL1(NM_000020,activin A receptor type II-like 1,503aa) | g.12:52306948G>A,c.127G>A,p.G43R |
| ACVRL1(NM_000020,activin A receptor type II-like 1,503aa) | g.12:52306925C>T,c.104C>T,p.T35M |
| ACVRL1(NM_000020,activin A receptor type II-like 1,503aa) | g.12:52306898C>T,c.77C>T,p.P26L |
| ACVR2B(NM_001106,activin A receptor, type IIB,512aa) | g.3:38524728C>T,c.1444C>T,p.R482W |
| ACVR2B(NM_001106,activin A receptor, type IIB,512aa) | g.3:38518844G>A,c.119G>A,p.R40H |
| ACVR2A(NM_001278579,activin A receptor, type IIA,513aa) | g.2:148684782T>C,c.1481T>C,p.I494T |
| ACVR2A(NM_001278579,activin A receptor, type IIA,513aa) | g.2:148657391C>T,c.452C>T,p.A151V |
| ACVR1(NM_001105,activin A receptor, type I,509aa) | g.2:158655962G>C,c.44C>G,p.A15G |
| ACVR1C(NM_145259,activin A receptor, type IC,493aa) | g.2:158412701T>G,c.448A>C,p.N150H |
| ACVR1C(NM_145259,activin A receptor, type IC,493aa) | g.2:158406865A>G,c.584T>C,p.I195T |
| ACVR1C(NM_145259,activin A receptor, type IC,493aa) | g.2:158401035C>T,c.865G>A,p.V289M |
| ACVR1C(NM_145259,activin A receptor, type IC,493aa) | g.2:158401022A>C,c.878T>G,p.I293S |
| ACVR1C(NM_145259,activin A receptor, type IC,493aa) | g.2:158399255T>C,c.1063A>G,p.I355V |
| ACVR1C(NM_145259,activin A receptor, type IC,493aa) | g.2:158397605C>T,c.1222G>A,p.G408R |
| ACVR1C(NM_145259,activin A receptor, type IC,493aa) | g.2:158390468T>C,c.1444A>G,p.I482V |
| ACVR1C(NM_145259,activin A receptor, type IC,493aa) | g.2:158390453C>T,c.1459G>A,p.V487I |
| ACVR1B(NM_020328,activin A receptor, type IB,546aa) | g.12:52380679del,c.1337del,p.446fs |
| ACVR1B(NM_020328,activin A receptor, type IB,546aa) | g.12:52376523C>T,c.865C>T,p.P289S |
| ACTRT3(NM_032487,actin-related protein T3,372aa) | g.3:169487199C>A,c.110G>T,p.R37L |
| ACTRT3(NM_032487,actin-related protein T3,372aa) | g.3:169485989T>A,c.350A>T,p.Q117L |
| ACTRT3(NM_032487,actin-related protein T3,372aa) | g.3:169485639C>T,c.700G>A,p.E234K |